Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: COL4A5: 5048G>T; Arg1683Leu
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: COL4A5: 5048G>T; Arg1683Leu
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Annals Of Internal Medicine
Lata, Sneh S; Marasa, Maddalena M; Li, Yifu Y; Fasel, David A DA; Groopman, Emily E; Jobanputra, Vaidehi V; Rasouly, Hila H; Mitrotti, Adele A; Westland, Rik R; Verbitsky, Miguel M; Nestor, Jordan J; Slater, Lindsey M LM; D'Agati, Vivette V; Zaniew, Marcin M; Materna-Kiryluk, Anna A; Lugani, Francesca F; Caridi, Gianluca G; Rampoldi, Luca L; Mattoo, Aditya A; Newton, Chad A CA; Rao, Maya K MK; Radhakrishnan, Jai J; Ahn, Wooin W; Canetta, Pietro A PA; Bomback, Andrew S AS; Appel, Gerald B GB; Antignac, Corinne C; Markowitz, Glen S GS; Garcia, Christine K CK; Kiryluk, Krzysztof K; Sanna-Cherchi, Simone S; Gharavi, Ali G AG